A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Authors :: Diets, I.J.
Prescott, Trine
Champaigne, Neena L.
Mancini, G.M.S.
Krossnes, Bard
Fric, Radek
Jongmans, M.C.J.
Kleefstra, T.
Diets, I.J.
Prescott, Trine
Champaigne, Neena L.
Mancini, G.M.S.
Krossnes, Bard
Fric, Radek
Jongmans, M.C.J.
Kleefstra, T.
Source :: Genetics in Medicine; 572; 579; 1098-3600; 3; vol. 21; ~Genetics in Medicine~572~579~~~1098-3600~3~21~~
Publication Year :: 2019
Abstract: Contains fulltext : 201749.pdf (publisher's version ) (Open Access)

Database :: OAIster
Journal :: Genetics in Medicine; 572; 579; 1098-3600; 3; vol. 21; ~Genetics in Medicine~572~579~~~1098-3600~3~21~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1284025322
Document Type :: Electronic Resource

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